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A Korean boy with atypical X-linked adrenoleukodystrophy confirmed by an unpublished mutation of ABCD1

Hye Jeong Jwa, Keon Su Lee, Gu Hwan Kim, Han Wook Yoo, Han Hyuk Lim

Clin Exp Pediatr. 2014;57(9):416-419. Published online September 30, 2014

X-linked adrenoleukodystrophy (X-ALD) is a rare peroxisomal disorder, that is rapidly progressive, neurodegenerative, and recessive, and characteristically primary affects the central nervous system white matter and the adrenal cortex. X-ALD is diagnosed basaed on clinical, radiological, and serological parameters, including elevated plasma levels of very long chain fatty acids (VLCFA), such as C24:0 and C26:0, and high C24:0/C22:0 and C26:0/C22:0...

DOI: https://doi.org/10.3345/kjp.2014.57.9.416

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